Paediatric familial hypercholesterolaemia in Australia: a real-world registry study.

Abstract

Objective: To describe the characteristics, detection and management of children and adolescents with familial hypercholesterolaemia (FH) enrolled in the Australian National FH Registry.

Design: Cross-sectional registry analysis.

Setting: 17 specialist lipid clinics across Australia.

Patients: 341 children and adolescents under 18 years of age with FH, enrolled between February 2015 and March 2026.

Interventions: None, observational study.

Main outcome measures: Age at enrolment, mode of FH detection, uptake of genetic testing, lipid-lowering therapy patterns, attainment of low-density lipoprotein-cholesterol (LDL-C) goals and testing of lipoprotein(a) [Lp(a)].

Results: The mean age at enrolment was 11.9 years; 51.4% were male and 53.5% were index cases. Only 52.6% had undergone genetic testing. The mean untreated LDL-C was 6.2 mmol/L. At follow-up, 85.4% were on lipid-lowering therapy, with 91.3% on a moderate-intensity or high-intensity statin but only 12.7% received combination therapy with ezetimibe. The mean treated LDL-C was 3.8 mmol/L and only 48.3% achieved the guideline-recommended goal. Factors associated with goal attainment included a lower pre-treatment LDL-C and use of lipid-lowering therapy. Lp(a) was tested in only 33.7% of children.

Conclusions: This study reveals five critical gaps in the care of Australian children with FH: late diagnosis after the recommended age to commence therapy; non-attainment of LDL-C goals despite treatment; under-utilisation of genetic testing; infrequent cascade testing and infrequent testing of Lp(a). Addressing these gaps demands a coordinated multilevel response, including a universal childhood FH screening programme coupled with state-based cascade testing hubs and rigorous implementation of evidence-based paediatric guidelines.